التفاصيل البيبلوغرافية
| العنوان: |
Postaxial polydactyly type A/B (PAP-A/B) in linked to chromosome 19p13.1-13.2 in a chinese kindred. |
| المؤلفون: |
Hongshan Zhao, Yong Tian, Breedveld, Guido, Shangzhi Huang, Ying Zou, Jue Y, Jinghua Chai, Hui Li, Mingyue Li, Oostra, Ben A., HY Lo, Wilson, Heutink, Peter |
| المصدر: |
European Journal of Human Genetics; Mar2002, Vol. 10 Issue 3, p162, 5p |
| مصطلحات موضوعية: |
HUMAN abnormalities, LINKAGE (Genetics) |
| مستخلص: |
Postaxial polydactyly is characterised by fifth digit duplications in hands and/or feet. Two phenotypic varieties have been described. In type A, the extra digit is well formed and articulates with the fifth or an extra metacarpal. A rudimentary extra fifth digit characterises type B. Mutations in the GLi3 gene are associated with postaxial polydactyly in some families and a second locus has been identified on chromosome 13 but the majority of cases remain unexplained. We report here a third locus for postaxial polydactyly on chromosome 19p 13.1-13.2 in a large Chinese kindred with a combination of type A and B. Two-point linkage analysis showed the highest LOD score (Z[sub max]=5.85 at θ=0 CM) at marker D19S221. Recombination events with markers D19S1165 and D19S929 define the critical region for this postaxial polydactyly locus to a region of 4.3 CM on the genetic map. [ABSTRACT FROM AUTHOR] |
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